Incidental Mutation 'R5229:Rbak'
| ID |
403656 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbak
|
| Ensembl Gene |
ENSMUSG00000061898 |
| Gene Name |
RB-associated KRAB zinc finger |
| Synonyms |
|
| MMRRC Submission |
042802-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R5229 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
143157941-143166530 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 143159917 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 379
(F379L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128731
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049861]
[ENSMUST00000165318]
|
| AlphaFold |
Q8BQC8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049861
AA Change: F379L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000059273
Gene: ENSMUSG00000061898
AA Change: F379L
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
8 |
68 |
6.89e-36 |
SMART |
|
ZnF_C2H2
|
258 |
280 |
1.1e-2 |
SMART |
|
ZnF_C2H2
|
286 |
308 |
1.4e-4 |
SMART |
|
ZnF_C2H2
|
314 |
336 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
342 |
364 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
370 |
392 |
2.3e-5 |
SMART |
|
ZnF_C2H2
|
398 |
420 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
426 |
448 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
454 |
476 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
508 |
528 |
1.4e1 |
SMART |
|
ZnF_C2H2
|
536 |
558 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
564 |
586 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
592 |
614 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
620 |
642 |
1.5e-4 |
SMART |
|
ZnF_C2H2
|
648 |
670 |
9.22e-5 |
SMART |
|
ZnF_C2H2
|
676 |
698 |
5.21e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164068
AA Change: F379L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133089
Gene: ENSMUSG00000061898
AA Change: F379L
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
8 |
68 |
6.89e-36 |
SMART |
|
ZnF_C2H2
|
258 |
280 |
1.1e-2 |
SMART |
|
ZnF_C2H2
|
286 |
308 |
1.4e-4 |
SMART |
|
ZnF_C2H2
|
314 |
336 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
342 |
364 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
370 |
392 |
2.3e-5 |
SMART |
|
ZnF_C2H2
|
398 |
420 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
426 |
448 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
454 |
476 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
508 |
528 |
1.4e1 |
SMART |
|
ZnF_C2H2
|
536 |
558 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
564 |
586 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
592 |
614 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
620 |
642 |
1.5e-4 |
SMART |
|
ZnF_C2H2
|
648 |
670 |
9.22e-5 |
SMART |
|
Pfam:zf-C2H2_6
|
675 |
689 |
3.3e-1 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165318
AA Change: F379L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128731
Gene: ENSMUSG00000061898
AA Change: F379L
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
8 |
68 |
6.89e-36 |
SMART |
|
ZnF_C2H2
|
258 |
280 |
1.1e-2 |
SMART |
|
ZnF_C2H2
|
286 |
308 |
1.4e-4 |
SMART |
|
ZnF_C2H2
|
314 |
336 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
342 |
364 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
370 |
392 |
2.3e-5 |
SMART |
|
ZnF_C2H2
|
398 |
420 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
426 |
448 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
454 |
476 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
508 |
528 |
1.4e1 |
SMART |
|
ZnF_C2H2
|
536 |
558 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
564 |
586 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
592 |
614 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
620 |
642 |
1.5e-4 |
SMART |
|
ZnF_C2H2
|
648 |
670 |
9.22e-5 |
SMART |
|
ZnF_C2H2
|
676 |
698 |
5.21e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166382
|
| SMART Domains |
Protein: ENSMUSP00000132239
Gene: ENSMUSG00000061898
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
27 |
87 |
6.89e-36 |
SMART |
|
ZnF_C2H2
|
277 |
299 |
1.1e-2 |
SMART |
|
ZnF_C2H2
|
305 |
327 |
1.4e-4 |
SMART |
|
ZnF_C2H2
|
333 |
355 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
361 |
383 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
389 |
411 |
2.3e-5 |
SMART |
|
ZnF_C2H2
|
417 |
439 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
445 |
467 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
473 |
495 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
527 |
547 |
1.4e1 |
SMART |
|
ZnF_C2H2
|
555 |
577 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
583 |
605 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
611 |
633 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
639 |
661 |
1.5e-4 |
SMART |
|
ZnF_C2H2
|
667 |
689 |
9.22e-5 |
SMART |
|
ZnF_C2H2
|
695 |
717 |
5.21e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199880
|
| Meta Mutation Damage Score |
0.6909 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
98% (62/63) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein which interacts with the tumor suppressor retinoblastoma 1. The two interacting proteins are thought to act as a transcriptional repressor for promoters which are activated by the E2F1 transcription factor. This protein contains a Kruppel-associated box (KRAB), which is a transcriptional repressor motif. Read-through transcripts that include exons from the downstream gene LOC389458 are expressed from this locus. [provided by RefSeq, Mar 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930444P10Rik |
T |
C |
1: 16,151,183 (GRCm39) |
|
probably benign |
Het |
| 4930562C15Rik |
A |
G |
16: 4,667,915 (GRCm39) |
I435M |
possibly damaging |
Het |
| Adcy5 |
A |
G |
16: 35,089,440 (GRCm39) |
I546V |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,027,806 (GRCm39) |
T10A |
probably benign |
Het |
| Brwd1 |
C |
A |
16: 95,803,409 (GRCm39) |
D2254Y |
possibly damaging |
Het |
| Bub1b |
C |
A |
2: 118,460,470 (GRCm39) |
D600E |
probably damaging |
Het |
| Cnga1 |
A |
G |
5: 72,766,843 (GRCm39) |
S199P |
probably damaging |
Het |
| Cyp3a11 |
G |
T |
5: 145,791,945 (GRCm39) |
L483I |
probably benign |
Het |
| Depp1 |
T |
C |
6: 116,628,992 (GRCm39) |
S112P |
possibly damaging |
Het |
| Dpysl3 |
C |
A |
18: 43,466,016 (GRCm39) |
G457V |
probably damaging |
Het |
| Eif4g3 |
C |
A |
4: 137,824,105 (GRCm39) |
P36T |
possibly damaging |
Het |
| Epb41 |
C |
A |
4: 131,706,246 (GRCm39) |
G415C |
probably damaging |
Het |
| Erap1 |
G |
A |
13: 74,808,494 (GRCm39) |
V69M |
possibly damaging |
Het |
| F2 |
A |
T |
2: 91,460,586 (GRCm39) |
Y301* |
probably null |
Het |
| F2rl2 |
A |
T |
13: 95,837,195 (GRCm39) |
N80I |
possibly damaging |
Het |
| Fam237b |
A |
T |
5: 5,625,565 (GRCm39) |
Y87F |
possibly damaging |
Het |
| Gm15446 |
T |
G |
5: 110,091,036 (GRCm39) |
H429Q |
probably damaging |
Het |
| Gpat3 |
G |
A |
5: 101,031,290 (GRCm39) |
G148D |
probably damaging |
Het |
| Gpr26 |
A |
T |
7: 131,585,976 (GRCm39) |
R315S |
probably damaging |
Het |
| Hdac9 |
A |
C |
12: 34,487,163 (GRCm39) |
H100Q |
probably damaging |
Het |
| Heatr5a |
A |
T |
12: 51,994,761 (GRCm39) |
V457D |
probably benign |
Het |
| Igkv10-96 |
A |
G |
6: 68,609,223 (GRCm39) |
M24T |
possibly damaging |
Het |
| Igkv2-95-2 |
A |
G |
6: 68,625,095 (GRCm39) |
|
noncoding transcript |
Het |
| Kdm4a |
G |
A |
4: 118,003,802 (GRCm39) |
S758F |
probably damaging |
Het |
| Lrg1 |
A |
G |
17: 56,427,154 (GRCm39) |
W273R |
probably damaging |
Het |
| Man2a1 |
A |
T |
17: 65,017,729 (GRCm39) |
Q658H |
probably benign |
Het |
| Mapkapk5 |
T |
C |
5: 121,671,454 (GRCm39) |
|
probably null |
Het |
| Mcm6 |
T |
C |
1: 128,261,321 (GRCm39) |
D761G |
possibly damaging |
Het |
| Myh8 |
A |
T |
11: 67,175,310 (GRCm39) |
Y286F |
probably damaging |
Het |
| Nbn |
C |
T |
4: 15,963,893 (GRCm39) |
T98I |
probably damaging |
Het |
| Nrdc |
T |
C |
4: 108,906,305 (GRCm39) |
S685P |
probably damaging |
Het |
| Nudcd3 |
A |
G |
11: 6,143,238 (GRCm39) |
V80A |
probably benign |
Het |
| Or10al5 |
A |
G |
17: 38,063,192 (GRCm39) |
H149R |
probably benign |
Het |
| Or5p54 |
A |
G |
7: 107,554,376 (GRCm39) |
H176R |
probably damaging |
Het |
| Pdcd6ip |
A |
T |
9: 113,507,401 (GRCm39) |
M390K |
probably damaging |
Het |
| Pon1 |
C |
T |
6: 5,177,295 (GRCm39) |
V205I |
possibly damaging |
Het |
| Ppp4r2 |
C |
A |
6: 100,842,176 (GRCm39) |
H212Q |
probably benign |
Het |
| Pramel32 |
T |
C |
4: 88,548,372 (GRCm39) |
D11G |
possibly damaging |
Het |
| Prl2c5 |
G |
A |
13: 13,360,441 (GRCm39) |
C33Y |
probably damaging |
Het |
| Rcc2 |
G |
A |
4: 140,444,340 (GRCm39) |
D344N |
probably damaging |
Het |
| Rgs3 |
T |
C |
4: 62,620,424 (GRCm39) |
L550P |
probably damaging |
Het |
| Rnasek |
A |
T |
11: 70,130,486 (GRCm39) |
M25K |
probably damaging |
Het |
| Scgb1b24 |
A |
T |
7: 33,443,520 (GRCm39) |
T60S |
possibly damaging |
Het |
| Scn5a |
A |
G |
9: 119,365,042 (GRCm39) |
F392S |
probably damaging |
Het |
| Scpep1 |
A |
T |
11: 88,827,871 (GRCm39) |
V209E |
probably damaging |
Het |
| Slc35g1 |
A |
G |
19: 38,391,080 (GRCm39) |
|
probably null |
Het |
| Sorbs1 |
A |
G |
19: 40,329,151 (GRCm39) |
I554T |
probably damaging |
Het |
| Spats1 |
A |
G |
17: 45,777,059 (GRCm39) |
|
probably benign |
Het |
| Tdp1 |
A |
G |
12: 99,859,919 (GRCm39) |
Q202R |
probably damaging |
Het |
| Trav6-5 |
T |
G |
14: 53,729,045 (GRCm39) |
S102A |
probably damaging |
Het |
| Tspan2 |
T |
C |
3: 102,676,215 (GRCm39) |
M208T |
probably damaging |
Het |
| Ube4b |
A |
G |
4: 149,471,635 (GRCm39) |
S84P |
probably damaging |
Het |
| Vmn1r237 |
C |
A |
17: 21,534,633 (GRCm39) |
Q119K |
probably benign |
Het |
| Vmn2r125 |
C |
T |
4: 156,703,333 (GRCm39) |
T237I |
probably benign |
Het |
| Zfp65 |
A |
T |
13: 67,856,929 (GRCm39) |
S117T |
probably benign |
Het |
|
| Other mutations in Rbak |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01843:Rbak
|
APN |
5 |
143,162,355 (GRCm39) |
splice site |
probably benign |
|
|
BB001:Rbak
|
UTSW |
5 |
143,160,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB011:Rbak
|
UTSW |
5 |
143,160,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0117:Rbak
|
UTSW |
5 |
143,159,387 (GRCm39) |
nonsense |
probably null |
|
|
R0514:Rbak
|
UTSW |
5 |
143,159,169 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0945:Rbak
|
UTSW |
5 |
143,159,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1483:Rbak
|
UTSW |
5 |
143,160,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1796:Rbak
|
UTSW |
5 |
143,159,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1916:Rbak
|
UTSW |
5 |
143,161,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1960:Rbak
|
UTSW |
5 |
143,160,437 (GRCm39) |
nonsense |
probably null |
|
|
R2039:Rbak
|
UTSW |
5 |
143,158,930 (GRCm39) |
missense |
probably benign |
0.37 |
|
R2070:Rbak
|
UTSW |
5 |
143,162,339 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2071:Rbak
|
UTSW |
5 |
143,162,339 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2151:Rbak
|
UTSW |
5 |
143,162,257 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2877:Rbak
|
UTSW |
5 |
143,159,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4030:Rbak
|
UTSW |
5 |
143,159,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4584:Rbak
|
UTSW |
5 |
143,161,878 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4612:Rbak
|
UTSW |
5 |
143,160,222 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5518:Rbak
|
UTSW |
5 |
143,159,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5541:Rbak
|
UTSW |
5 |
143,159,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5873:Rbak
|
UTSW |
5 |
143,159,466 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5908:Rbak
|
UTSW |
5 |
143,159,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6053:Rbak
|
UTSW |
5 |
143,160,437 (GRCm39) |
nonsense |
probably null |
|
|
R6416:Rbak
|
UTSW |
5 |
143,162,307 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6693:Rbak
|
UTSW |
5 |
143,159,866 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7041:Rbak
|
UTSW |
5 |
143,159,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7057:Rbak
|
UTSW |
5 |
143,159,682 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7341:Rbak
|
UTSW |
5 |
143,161,827 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7454:Rbak
|
UTSW |
5 |
143,159,528 (GRCm39) |
nonsense |
probably null |
|
|
R7921:Rbak
|
UTSW |
5 |
143,160,017 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7924:Rbak
|
UTSW |
5 |
143,160,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8939:Rbak
|
UTSW |
5 |
143,160,025 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9533:Rbak
|
UTSW |
5 |
143,160,172 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Rbak
|
UTSW |
5 |
143,162,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGTGCCTAATGAAAGCAGAG -3'
(R):5'- ACCTTTTGTCAGAAGTTACACCTC -3'
Sequencing Primer
(F):5'- TCTTCTAAATGGCTCCGATAGTG -3'
(R):5'- TTTGTCAGAAGTTACACCTCACACAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation